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Aliases for TPO Gene

Aliases for TPO Gene

  • Thyroid Peroxidase 2 3 5
  • EC 4 61
  • Thyroid Microsomal Antigen 3
  • Thyroperoxidase 3
  • EC 1.11.1 61
  • TDH2A 3
  • MSA 3
  • TPX 3

External Ids for TPO Gene

Previous GeneCards Identifiers for TPO Gene

  • GC02P001422
  • GC02P001360

Summaries for TPO Gene

Entrez Gene Summary for TPO Gene

  • This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011]

GeneCards Summary for TPO Gene

TPO (Thyroid Peroxidase) is a Protein Coding gene. Diseases associated with TPO include Thyroid Dyshormonogenesis 2A and Congenital Hypothyroidism. Among its related pathways are Metabolism and Amine-derived hormones. GO annotations related to this gene include calcium ion binding and peroxidase activity. An important paralog of this gene is EPX.

UniProtKB/Swiss-Prot for TPO Gene

  • Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TPO Gene

Genomics for TPO Gene

Regulatory Elements for TPO Gene

Enhancers for TPO Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F001462 0.3 FANTOM5 16.6 +88.4 88445 0.4 TPO GC02P001475 GC02M001390
GH02F001509 1.4 FANTOM5 Ensembl ENCODE 15.6 +135.8 135797 1.6 KLF1 GATA3 STAT1 STAT3 TPO GC02M001476 LOC102723730
GH02F001472 0.8 FANTOM5 15.1 +98.8 98846 0.5 TPO GC02P001475 GC02M001390
GH02F001421 0.7 FANTOM5 11.6 +47.1 47103 0.5 TPO GC02M001390 GC02M001380
GH02F001526 0.3 FANTOM5 9.1 +152.3 152292 0.3 ZSCAN5A ZBTB11 TPO LOC105373363 LOC102723730 GC02M001476
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TPO on UCSC Golden Path with GeneCards custom track

Genomic Location for TPO Gene

1,374,223 bp from pter
1,543,711 bp from pter
169,489 bases
Plus strand

Genomic View for TPO Gene

Genes around TPO on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPO Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPO Gene

Proteins for TPO Gene

  • Protein details for TPO Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Thyroid peroxidase
    Protein Accession:
    Secondary Accessions:
    • P09934
    • P09935
    • Q8IUL0
    • Q8NF94
    • Q8NF95
    • Q8NF96
    • Q8NF97
    • Q8TCI9

    Protein attributes for TPO Gene

    933 amino acids
    Molecular mass:
    102963 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Name=heme b; Xref=ChEBI:CHEBI:60344;
    Quaternary structure:
    • Interacts with DUOX1, DUOX2 and CYBA.

    Alternative splice isoforms for TPO Gene

neXtProt entry for TPO Gene

Post-translational modifications for TPO Gene

  • Cleaved in its N-terminal part.
  • Glycosylated.
  • Heme is covalently bound through a H(2)O(2)-dependent autocatalytic process. Heme insertion is important for the delivery of protein at the cell surface.
  • Ubiquitination at Lys 879
  • Glycosylation at Asn 129, Asn 307, Asn 342, and Asn 569
  • Modification sites at PhosphoSitePlus

Domains & Families for TPO Gene

Gene Families for TPO Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 EGF-like domain.
  • Belongs to the peroxidase family. XPO subfamily.
  • Contains 1 EGF-like domain.
  • Contains 1 Sushi (CCP/SCR) domain.
  • Belongs to the peroxidase family. XPO subfamily.
genes like me logo Genes that share domains with TPO: view

Function for TPO Gene

Molecular function for TPO Gene

GENATLAS Biochemistry:
thyroid peroxidase,thyroid hormone synthesis (iodide organification) and metabolism pathway
UniProtKB/Swiss-Prot CatalyticActivity:
2 iodide + H(2)O(2) + 2 H(+) = diiodine + 2 H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
[Thyroglobulin]-L-tyrosine + iodide + H(2)O(2) = [thyroglobulin]-3-iodo-L-tyrosine + 2 H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
[Thyroglobulin]-3-iodo-L-tyrosine + iodide + H(2)O(2) = [thyroglobulin]-3,5-diiodo-L-tyrosine + 2 H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
2 [thyroglobulin]-3,5-diiodo-L-tyrosine + H(2)O(2) = [thyroglobulin]-L-thyroxine + [thyroglobulin]-aminoacrylate + 2 H(2)O.
UniProtKB/Swiss-Prot CatalyticActivity:
[Thyroglobulin]-3-iodo-L-tyrosine + [thyroglobulin]-3,5-diiodo-L-tyrosine + H(2)O(2) = [thyroglobulin]-3,5,3-triiodo-L-thyronine + [thyroglobulin]-aminoacrylate + 2 H(2)O.
UniProtKB/Swiss-Prot Function:
Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4).

Enzyme Numbers (IUBMB) for TPO Gene

Gene Ontology (GO) - Molecular Function for TPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004447 iodide peroxidase activity IEA --
GO:0004601 peroxidase activity IEA,TAS --
GO:0005509 calcium ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with TPO: view
genes like me logo Genes that share phenotypes with TPO: view

Human Phenotype Ontology for TPO Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for TPO Gene

miRTarBase miRNAs that target TPO

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TPO Gene

Localization for TPO Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPO Gene

Membrane; Single-pass type I membrane protein.
Isoform 3: Cell surface.

Subcellular locations from

Jensen Localization Image for TPO Gene COMPARTMENTS Subcellular localization image for TPO gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 3
mitochondrion 3
chloroplast 2
nucleus 2
vacuole 2
lysosome 1

Gene Ontology (GO) - Cellular Components for TPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005739 mitochondrion IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2548579
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with TPO: view

Pathways & Interactions for TPO Gene

genes like me logo Genes that share pathways with TPO: view

UniProtKB/Swiss-Prot P07202-PERT_HUMAN

  • Pathway: Hormone biosynthesis; thyroid hormone biosynthesis.

Gene Ontology (GO) - Biological Process for TPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006590 thyroid hormone generation IEA,TAS --
GO:0006979 response to oxidative stress IEA --
GO:0035162 embryonic hemopoiesis IDA 21149635
GO:0042446 hormone biosynthetic process IEA --
GO:0042744 hydrogen peroxide catabolic process IEA --
genes like me logo Genes that share ontologies with TPO: view

No data available for SIGNOR curated interactions for TPO Gene

Drugs & Compounds for TPO Gene

(48) Drugs for TPO Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Propylthiouracil Approved Pharma inhibitor, Target 8
Carbimazole Approved Pharma inhibitor, Target 2
Methimazole Approved Pharma inhibitor, Target ICAM-1 inhibitor 0
Dextrothyroxine Approved Pharma Target 0
Levothyroxine Approved Pharma 0

(47) Additional Compounds for TPO Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • Iodide
  • Iodide anion
  • Iodide ion
  • Iodide Salt
  • Iodide(1-)
2-Aminoacrylic acid
  • (alpha)-(beta)-di-dehydroalanine
  • 2-Aminoacrylate
  • 2-Aminoacrylic acid
  • a-b-Di-dehydroalanine
  • alpha-beta-Di-dehydroalanine
  • 3,5-Diiodotyrocine
  • 3,5-Iodo-L-tyrosine
  • 3,5-L-Diiodotyrosine
  • 4-Hydroxy-3,5-diiodophenylalanine
  • L-3,5-DiioDOTyrosine
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton

(1) ApexBio Compounds for TPO Gene

Compound Action Cas Number
Propylthiouracil 51-52-5
genes like me logo Genes that share compounds with TPO: view

Transcripts for TPO Gene

Unigene Clusters for TPO Gene

Thyroid peroxidase:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TPO Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b
SP1: - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: - -

Relevant External Links for TPO Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TPO Gene

mRNA expression in normal human tissues for TPO Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TPO Gene

This gene is overexpressed in Thyroid (x48.1).

Protein differential expression in normal tissues from HIPED for TPO Gene

This gene is overexpressed in Thyroid (59.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TPO Gene

Protein tissue co-expression partners for TPO Gene

NURSA nuclear receptor signaling pathways regulating expression of TPO Gene:


SOURCE GeneReport for Unigene cluster for TPO Gene:

genes like me logo Genes that share expression patterns with TPO: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for TPO Gene

Orthologs for TPO Gene

This gene was present in the common ancestor of animals.

Orthologs for TPO Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TPO 34
  • 98.31 (n)
(Bos Taurus)
Mammalia TPO 34
  • 77.8 (n)
(Rattus norvegicus)
Mammalia Tpo 34
  • 76.91 (n)
(Canis familiaris)
Mammalia TPO 34 35
  • 76.64 (n)
(Mus musculus)
Mammalia Tpo 34 16 35
  • 76.46 (n)
(Monodelphis domestica)
Mammalia TPO 35
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia TPO 35
  • 65 (a)
(Gallus gallus)
Aves TPO 34 35
  • 64.46 (n)
(Anolis carolinensis)
Reptilia TPO 35
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tpo 34
  • 59.67 (n)
(Danio rerio)
Actinopterygii TPO 35
  • 66 (a)
LOC100331172 34
  • 53.51 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5873 36
  • 34 (a)
CG10211 36
  • 33 (a)
CG6879 36
  • 33 (a)
CG6969 36
  • 33 (a)
pxt 36
  • 28 (a)
Irc 35
  • 23 (a)
(Caenorhabditis elegans)
Secernentea F32A5.2a 36
  • 35 (a)
F32A5.2b 36
  • 35 (a)
C16C8.2 36
  • 34 (a)
F49E12.1 36
  • 34 (a)
ZK430.8 36
  • 33 (a)
C46A5.4 36
  • 32 (a)
K10B4.1 36
  • 31 (a)
R08F11.7 36
  • 30 (a)
F09F3.5 36 35
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 29 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14230 34
Species where no ortholog for TPO was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TPO Gene

Gene Tree for TPO (if available)
Gene Tree for TPO (if available)

Paralogs for TPO Gene

Paralogs for TPO Gene

genes like me logo Genes that share paralogs with TPO: view

Variants for TPO Gene

Sequence variations from dbSNP and Humsavar for TPO Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs104893669 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500], Pathogenic 1,484,596(+) CACAG(A/T)TCATC reference, missense
rs121908083 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500], Pathogenic 1,484,614(+) GGGAT(G/T)ACATC reference, missense
rs121908084 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500], Pathogenic 1,487,991(+) TGCCA(A/G)GTCTG intron-variant, reference, missense
rs121908085 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500], Pathogenic 1,503,956(+) TGAAC(A/G)AGTGT intron-variant, reference, missense
rs121908086 Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500], Pathogenic 1,493,976(+) GGCTC(A/G)GACAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TPO Gene

Variant ID Type Subtype PubMed ID
dgv1835n106 CNV deletion 24896259
dgv1836n106 CNV duplication 24896259
dgv1837n106 CNV deletion 24896259
dgv232e215 CNV deletion 23714750
dgv3701n100 CNV gain 25217958
dgv559e201 CNV deletion 23290073
dgv560e201 CNV deletion 23290073
dgv561e201 CNV deletion 23290073
dgv562e201 CNV deletion 23290073
dgv563e201 CNV deletion 23290073
dgv564e201 CNV deletion 23290073
dgv603n67 CNV loss 20364138
dgv604n67 CNV loss 20364138
dgv605n67 CNV loss 20364138
dgv6611n54 CNV gain 21841781
dgv6612n54 CNV gain 21841781
dgv6613n54 CNV loss 21841781
dgv6614n54 CNV loss 21841781
dgv6615n54 CNV loss 21841781
dgv6616n54 CNV loss 21841781
dgv6617n54 CNV loss 21841781
dgv6618n54 CNV loss 21841781
dgv6619n54 CNV gain+loss 21841781
dgv6620n54 CNV loss 21841781
dgv6621n54 CNV gain 21841781
dgv6622n54 CNV loss 21841781
dgv6623n54 CNV loss 21841781
dgv6624n54 CNV loss 21841781
dgv6625n54 CNV loss 21841781
dgv6626n54 CNV gain 21841781
dgv6627n54 CNV loss 21841781
dgv6628n54 CNV loss 21841781
dgv6629n54 CNV loss 21841781
dgv6630n54 CNV loss 21841781
dgv6631n54 CNV loss 21841781
dgv6632n54 CNV loss 21841781
dgv6633n54 CNV loss 21841781
dgv6634n54 CNV gain 21841781
dgv6635n54 CNV loss 21841781
dgv6636n54 CNV loss 21841781
dgv6637n54 CNV loss 21841781
dgv6638n54 CNV gain 21841781
dgv6639n54 CNV loss 21841781
dgv6640n54 CNV gain 21841781
dgv6641n54 CNV loss 21841781
dgv6642n54 CNV gain 21841781
dgv6643n54 CNV gain 21841781
dgv6644n54 CNV loss 21841781
dgv6645n54 CNV loss 21841781
dgv6646n54 CNV loss 21841781
dgv6647n54 CNV gain 21841781
dgv6648n54 CNV loss 21841781
dgv6649n54 CNV loss 21841781
dgv6650n54 CNV loss 21841781
esv1002938 CNV insertion 20482838
esv1006306 CNV gain 20482838
esv1010288 CNV deletion 20482838
esv1053095 CNV deletion 17803354
esv1471512 CNV deletion 17803354
esv1496362 CNV insertion 17803354
esv1516032 CNV deletion 17803354
esv1641412 CNV deletion 17803354
esv1747962 CNV deletion 17803354
esv1981245 CNV deletion 18987734
esv2042950 CNV deletion 18987734
esv22106 CNV gain 19812545
esv2371250 CNV deletion 18987734
esv24515 CNV gain+loss 19812545
esv2598362 CNV loss 19546169
esv2643071 CNV deletion 19546169
esv2664648 CNV deletion 23128226
esv2670872 CNV deletion 23128226
esv2719234 CNV deletion 23290073
esv2719235 CNV deletion 23290073
esv2719236 CNV deletion 23290073
esv2719237 CNV deletion 23290073
esv2719238 CNV deletion 23290073
esv2719240 CNV deletion 23290073
esv2719241 CNV deletion 23290073
esv2719242 CNV deletion 23290073
esv2719243 CNV deletion 23290073
esv2719244 CNV deletion 23290073
esv2719245 CNV deletion 23290073
esv2719246 CNV deletion 23290073
esv2719247 CNV deletion 23290073
esv2719248 CNV deletion 23290073
esv2719252 CNV deletion 23290073
esv2719254 CNV deletion 23290073
esv2719255 CNV deletion 23290073
esv2719256 CNV deletion 23290073
esv2719257 CNV deletion 23290073
esv2719258 CNV deletion 23290073
esv2719259 CNV deletion 23290073
esv2719260 CNV deletion 23290073
esv2719261 CNV deletion 23290073
esv2719263 CNV deletion 23290073
esv2719264 CNV deletion 23290073
esv2719265 CNV deletion 23290073
esv2719267 CNV deletion 23290073
esv2719269 CNV deletion 23290073
esv2719270 CNV deletion 23290073
esv2719271 CNV deletion 23290073
esv2719272 CNV deletion 23290073
esv2719274 CNV deletion 23290073
esv2719279 CNV deletion 23290073
esv2719283 CNV deletion 23290073
esv2719288 CNV deletion 23290073
esv2719289 CNV deletion 23290073
esv2719290 CNV deletion 23290073
esv2719291 CNV deletion 23290073
esv2719292 CNV deletion 23290073
esv2743204 CNV deletion 23290073
esv2743205 CNV deletion 23290073
esv2743352 CNV deletion 23290073
esv27443 CNV gain 19812545
esv2759017 CNV gain 17122850
esv2760624 CNV gain 21179565
esv3450544 CNV duplication 20981092
esv35100 CNV gain 17911159
esv3550912 CNV deletion 23714750
esv3550923 CNV deletion 23714750
esv3550934 CNV deletion 23714750
esv3550956 CNV deletion 23714750
esv3550967 CNV deletion 23714750
esv3550978 CNV deletion 23714750
esv3550989 CNV deletion 23714750
esv3551034 CNV deletion 23714750
esv3551045 CNV deletion 23714750
esv3589629 CNV gain 21293372
esv3891470 CNV gain 25118596
esv3911 CNV loss 18987735
esv4097 OTHER sequence alteration 18987735
esv4834 CNV loss 18987735
esv8113 CNV loss 19470904
esv8957 CNV loss 19470904
esv999851 CNV gain 20482838
nsv1005443 CNV gain 25217958
nsv1014918 CNV gain 25217958
nsv1071959 CNV deletion 25765185
nsv1072906 CNV deletion 25765185
nsv1077869 CNV duplication 25765185
nsv1109226 CNV deletion 24896259
nsv1112752 CNV deletion 24896259
nsv1120366 CNV tandem duplication 24896259
nsv1125592 CNV deletion 24896259
nsv1126535 CNV deletion 24896259
nsv1130742 CNV deletion 24896259
nsv1134823 CNV deletion 24896259
nsv1138738 CNV deletion 24896259
nsv1142851 CNV deletion 24896259
nsv1142947 CNV tandem duplication 24896259
nsv1151150 CNV deletion 26484159
nsv1153183 CNV deletion 26484159
nsv214040 CNV deletion 16902084
nsv214173 CNV deletion 16902084
nsv214904 CNV deletion 16902084
nsv215163 CNV insertion 16902084
nsv2567 CNV insertion 18451855
nsv2568 CNV insertion 18451855
nsv2569 CNV insertion 18451855
nsv468916 CNV gain 19166990
nsv474783 CNV novel sequence insertion 20440878
nsv481195 CNV novel sequence insertion 20440878
nsv508790 CNV insertion 20534489
nsv511195 CNV loss 21212237
nsv511760 CNV loss 21212237
nsv511761 CNV loss 21212237
nsv525619 CNV loss 19592680
nsv527311 CNV gain 19592680
nsv527538 CNV loss 19592680
nsv580496 CNV gain 21841781
nsv580499 CNV loss 21841781
nsv580501 CNV loss 21841781
nsv580514 CNV gain+loss 21841781
nsv580515 CNV gain+loss 21841781
nsv580517 CNV gain+loss 21841781
nsv580520 CNV gain+loss 21841781
nsv580574 CNV loss 21841781
nsv580581 CNV gain+loss 21841781
nsv580593 CNV loss 21841781
nsv580609 CNV gain 21841781
nsv580613 CNV gain 21841781
nsv580614 CNV loss 21841781
nsv580616 CNV loss 21841781
nsv580618 CNV loss 21841781
nsv580622 CNV gain 21841781
nsv580626 CNV loss 21841781
nsv580627 CNV loss 21841781
nsv580644 CNV loss 21841781
nsv580654 CNV loss 21841781
nsv580661 CNV gain 21841781
nsv580662 CNV loss 21841781
nsv580672 CNV loss 21841781
nsv580674 CNV loss 21841781
nsv580679 CNV gain 21841781
nsv580680 CNV gain+loss 21841781
nsv580682 CNV loss 21841781
nsv580683 CNV loss 21841781
nsv580684 CNV loss 21841781
nsv580715 CNV gain 21841781
nsv580717 CNV gain+loss 21841781
nsv580719 CNV loss 21841781
nsv580731 CNV loss 21841781
nsv580732 CNV loss 21841781
nsv580733 CNV gain 21841781
nsv580736 CNV loss 21841781
nsv580737 CNV gain 21841781
nsv580740 CNV loss 21841781
nsv580743 CNV loss 21841781
nsv818900 CNV gain 17921354
nsv821156 CNV deletion 20802225
nsv827931 CNV gain 20364138
nsv833204 CNV gain 17160897
nsv9269 CNV gain 18304495
nsv953374 CNV deletion 24416366
nsv954707 CNV deletion 24416366

Variation tolerance for TPO Gene

Residual Variation Intolerance Score: 54.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.07; 90.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TPO Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPO Gene

Disorders for TPO Gene

MalaCards: The human disease database

(48) MalaCards diseases for TPO Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
thyroid dyshormonogenesis 2a
  • chdh2a
congenital hypothyroidism
  • cretinism
neonatal hypothyroidism
  • congenital hypothyroidism
familial thyroid dyshormonogenesis
  • thyroid dyshormonogenesis
congenital hypothyroidism, tpo-related
  • congenital hypothyroidism due to dyshormonogenesis 2a
- elite association - COSMIC cancer census association via MalaCards
Search TPO in MalaCards View complete list of genes associated with diseases


  • Note=An alternative splicing in the thyroperoxidase mRNA can cause Graves disease.
  • Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]: A disorder due to defective conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or complete. {ECO:0000269 PubMed:10084596, ECO:0000269 PubMed:10468986, ECO:0000269 PubMed:11061528, ECO:0000269 PubMed:11415848, ECO:0000269 PubMed:11874711, ECO:0000269 PubMed:11916616, ECO:0000269 PubMed:12213873, ECO:0000269 PubMed:12490071, ECO:0000269 PubMed:12843174, ECO:0000269 PubMed:12864797, ECO:0000269 PubMed:12938097, ECO:0000269 PubMed:16284446, ECO:0000269 PubMed:16684826, ECO:0000269 PubMed:7550241, ECO:0000269 PubMed:9024270, ECO:0000269 PubMed:9924196}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for TPO Gene

goiter (organification defect IIA)

Relevant External Links for TPO

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TPO: view

Publications for TPO Gene

  1. Differential evolution of thyroid peroxidase and thyrotropin receptor antibodies in Graves' disease: thyroid peroxidase antibody activity reverts to pretreatment level after carbimazole withdrawal. (PMID: 17042691) Guilhem I. … Maugendre D. (Thyroid 2006) 3 22 25 64
  2. Partial iodide organification defect caused by a novel mutation of the thyroid peroxidase gene in three siblings. (PMID: 12864797) Kotani T. … Harada S. (Clin. Endocrinol. (Oxf.) 2003) 3 4 22 64
  3. Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect. (PMID: 12843174) Fugazzola L. … Beck-Peccoz P. (J. Clin. Endocrinol. Metab. 2003) 3 4 22 64
  4. Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect. (PMID: 12938097) Rivolta C.M. … Targovnik H.M. (Hum. Mutat. 2003) 3 4 22 64
  5. High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect. (PMID: 12213873) Niu D.-M. … Lin C.-Y. (J. Clin. Endocrinol. Metab. 2002) 3 4 22 64

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